Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999957289 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:41018452A>TN/A show variant in all transcripts   IGV
HGNC symbol MROH2B
Ensembl transcript ID ENST00000399564
Genbank transcript ID NM_173489
UniProt peptide Q7Z745
alteration type single base exchange
alteration region CDS
DNA changes c.2754T>A
cDNA.3205T>A
g.52993T>A
AA changes N918K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 918
frameshift no
known variant Reference ID: rs10054110
databasehomozygous (T/T)heterozygousallele carriers
1000G30511211426
ExAC73591804925408
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7710.023
0.4430.02
(flanking)0.4660.013
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased52988wt: 0.54 / mu: 0.99wt: TGCTGACAAATGATA
mu: TGCTGACAAAAGATA		 CTGA|caaa
Donor marginally increased52997wt: 0.8255 / mu: 0.8892 (marginal change - not scored)wt: ATGATATTGAGGTAA
mu: AAGATATTGAGGTAA		 GATA|ttga
Donor gained529930.75mu: ACAAAAGATATTGAG AAAA|gata
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      918RAFQITAKVLTNDIEAPENFKIGS
mutated  not conserved    918RAFQITAKVLTKDIEAPENFKIG
Ptroglodytes  all identical  ENSPTRG00000016825  623RAFQITAKVLTNDIEAPGNFKIG
Mmulatta  all identical  ENSMMUG00000004774  912RAFQITAKVLTNDIVAPENFKIG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000022155  914RAFQVTSKVLTKDVEAPQNFRIG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0040236  1027NTLDVYIKSMKIGCEAPSK
Celegans  not conserved  C34G6.1  1060RAVDMTVLVLRVYYECAEDISLGHASDF
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
9641001REPEATHEAT 10.might get lost (downstream of altered splice site)
10211059REPEATHEAT 11.might get lost (downstream of altered splice site)
10591059CONFLICTV -> L (in Ref. 5; AAP97306).might get lost (downstream of altered splice site)
10721072CONFLICTE -> D (in Ref. 5; AAP97306).might get lost (downstream of altered splice site)
11121151REPEATHEAT 12.might get lost (downstream of altered splice site)
11571195REPEATHEAT 13.might get lost (downstream of altered splice site)
11711171MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
12581295REPEATHEAT 14.might get lost (downstream of altered splice site)
13631402REPEATHEAT 15.might get lost (downstream of altered splice site)
14241424CONFLICTI -> T (in Ref. 1; CAH18199 and 5; AAP97306).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4758 / 4758
position (AA) of stopcodon in wt / mu AA sequence 1586 / 1586
position of stopcodon in wt / mu cDNA 5209 / 5209
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 452 / 452
chromosome 5
strand -1
last intron/exon boundary 5103
theoretical NMD boundary in CDS 4601
length of CDS 4758
coding sequence (CDS) position 2754
cDNA position
(for ins/del: last normal base / first normal base)		 3205
gDNA position
(for ins/del: last normal base / first normal base)		 52993
chromosomal position
(for ins/del: last normal base / first normal base)		 41018452
original gDNA sequence snippet ACTGCGAAAGTGCTGACAAATGATATTGAGGTAAGTAATCC
altered gDNA sequence snippet ACTGCGAAAGTGCTGACAAAAGATATTGAGGTAAGTAATCC
original cDNA sequence snippet ACTGCGAAAGTGCTGACAAATGATATTGAGGCACCAGAGAA
altered cDNA sequence snippet ACTGCGAAAGTGCTGACAAAAGATATTGAGGCACCAGAGAA
wildtype AA sequence MTLSTEESIE MFGDINLTLG MLNKEDIVNK EDIYSHLTSV IQNTDILDDA IVQRLIYYAS
KDMRDNNMLR EIRMLAGEVL VSLAAHDFNS VMYEVQSNFR ILELPDEFVV LALAELATSY
VSQSIPFMMM TLLTMQTMLR LAEDERMKGT FCIALEKFSK AIYKYVNHWR DFPYPRLDAN
RLSDKIFMLF WYIMEKWAPL ASPMQTLSIV KAHGPTVSLL LHREDFRGYA LGQVPWLLNQ
YKDKEIDFHV TQSLKQILTA AVLYDIGLPR SLRRSIFINL LQQICRAPEP PVKENEMKAS
SCFLILAHSN PGELMEFFDE QVRSNNEAIR VGILTLLRLA VNADEPRLRD HIISIERTVK
IVMGDLSTKV RNSVLLLIQT MCEKSYIEAR EGWPLIDYVF SQFATLNRNL EKPVKTNFHE
NEKEEESVRE TSLEVLKTLD PLVIGMPQVL WPRILTFVVP AEYTEALEPL FSIIRILIMA
EEKKQHSAKE STALVVSTGA VKLPSPQQLL ARLLVISMPA SLGELRGAGA IGLLKILPEI
IHPKLVDLWK TRLPELLQPL EGKNISTVLW ETMLLQLLKE SLWKISDVAW TIQLTQDFKQ
QMGSYSNNST EKKFLWKALG TTLACCQDSD FVNSQIKEFL TAPNQLGDQR QGITSILGYC
AENHLDIVLK VLKTFQNQEK FFMNRCKSLF SGKKSLTKTD VMVIYGAVAL HAPKKQLLSR
LNQDIISQVL SLHGQCSQVL GMSVMNKDMD LQMSFTRSIT EIGIAVQDAE DQGFQFSYKE
MLIGYMLDFI RDEPLDSLAS PIRWKALIAI RYLSKLKPQL SLQDHLNILE ENIRRLLPLP
PLENLKSEGQ TDKDKEHIQF LYERSMDALG KLLKTMMWDN VNAEDCQEMF NLLQMWLVSQ
KEWERERAFQ ITAKVLTNDI EAPENFKIGS LLGLLAPHSC DTLPTIRQAA ASSTIGLFYI
KGIHLEVERL QGLQEGLESD DVQVQIKISS KIAKIVSKFI PNEEILMFLE EMLDGLESLN
PTCTKACGIW MITVLKQQGA ALEDQLLEIL GTIYHHMPVL RQKEESFQFI LEAISQIASF
HMDTVVVNLL QKPLPFDRDT KTLWKALAEK PASSGKLLQA LIDKLETELE DDIARVEAIS
VACAMYEVIS MGTSVTGLYP ELFTLLLKLV SCTLGQKMLT CPWSHRRHVM QQGEQQQIPD
PCRLSTATLK CLQAQAMREG LAKESDEGDN LWTLLSSPST HHIGVCSLAR SMAVWQHGVI
LDIMEQLLSS LTSSSENYRI TGAAFFSELM KEPILWKHGN LRNVLILMDQ SAWDSNATLR
QMAIRGLGNT ASGAPHKVKK HKQLMLESII RGLYHLARTE VVCESLKALK KILELLTDRD
VSFYFKEIVL QTRTFFEDEQ DDVRLTAIFL FEDLAPLTGR RWKIFFAEEI KKSLISFLLH
LWDPNPKIGV ACRDVLMVCI PFLGLQELYG VLDRLLDQDL PRARDFYRQF CVKLAKKNQE
ILWILHTHSF TFFTSTWEVI RSAAVKLTDA VVLNLTSQYV ELLDREQLTT RLQALRQDPC
ISVQRAAEAA LQTLLRRCKE TSIPL*
mutated AA sequence MTLSTEESIE MFGDINLTLG MLNKEDIVNK EDIYSHLTSV IQNTDILDDA IVQRLIYYAS
KDMRDNNMLR EIRMLAGEVL VSLAAHDFNS VMYEVQSNFR ILELPDEFVV LALAELATSY
VSQSIPFMMM TLLTMQTMLR LAEDERMKGT FCIALEKFSK AIYKYVNHWR DFPYPRLDAN
RLSDKIFMLF WYIMEKWAPL ASPMQTLSIV KAHGPTVSLL LHREDFRGYA LGQVPWLLNQ
YKDKEIDFHV TQSLKQILTA AVLYDIGLPR SLRRSIFINL LQQICRAPEP PVKENEMKAS
SCFLILAHSN PGELMEFFDE QVRSNNEAIR VGILTLLRLA VNADEPRLRD HIISIERTVK
IVMGDLSTKV RNSVLLLIQT MCEKSYIEAR EGWPLIDYVF SQFATLNRNL EKPVKTNFHE
NEKEEESVRE TSLEVLKTLD PLVIGMPQVL WPRILTFVVP AEYTEALEPL FSIIRILIMA
EEKKQHSAKE STALVVSTGA VKLPSPQQLL ARLLVISMPA SLGELRGAGA IGLLKILPEI
IHPKLVDLWK TRLPELLQPL EGKNISTVLW ETMLLQLLKE SLWKISDVAW TIQLTQDFKQ
QMGSYSNNST EKKFLWKALG TTLACCQDSD FVNSQIKEFL TAPNQLGDQR QGITSILGYC
AENHLDIVLK VLKTFQNQEK FFMNRCKSLF SGKKSLTKTD VMVIYGAVAL HAPKKQLLSR
LNQDIISQVL SLHGQCSQVL GMSVMNKDMD LQMSFTRSIT EIGIAVQDAE DQGFQFSYKE
MLIGYMLDFI RDEPLDSLAS PIRWKALIAI RYLSKLKPQL SLQDHLNILE ENIRRLLPLP
PLENLKSEGQ TDKDKEHIQF LYERSMDALG KLLKTMMWDN VNAEDCQEMF NLLQMWLVSQ
KEWERERAFQ ITAKVLTKDI EAPENFKIGS LLGLLAPHSC DTLPTIRQAA ASSTIGLFYI
KGIHLEVERL QGLQEGLESD DVQVQIKISS KIAKIVSKFI PNEEILMFLE EMLDGLESLN
PTCTKACGIW MITVLKQQGA ALEDQLLEIL GTIYHHMPVL RQKEESFQFI LEAISQIASF
HMDTVVVNLL QKPLPFDRDT KTLWKALAEK PASSGKLLQA LIDKLETELE DDIARVEAIS
VACAMYEVIS MGTSVTGLYP ELFTLLLKLV SCTLGQKMLT CPWSHRRHVM QQGEQQQIPD
PCRLSTATLK CLQAQAMREG LAKESDEGDN LWTLLSSPST HHIGVCSLAR SMAVWQHGVI
LDIMEQLLSS LTSSSENYRI TGAAFFSELM KEPILWKHGN LRNVLILMDQ SAWDSNATLR
QMAIRGLGNT ASGAPHKVKK HKQLMLESII RGLYHLARTE VVCESLKALK KILELLTDRD
VSFYFKEIVL QTRTFFEDEQ DDVRLTAIFL FEDLAPLTGR RWKIFFAEEI KKSLISFLLH
LWDPNPKIGV ACRDVLMVCI PFLGLQELYG VLDRLLDQDL PRARDFYRQF CVKLAKKNQE
ILWILHTHSF TFFTSTWEVI RSAAVKLTDA VVLNLTSQYV ELLDREQLTT RLQALRQDPC
ISVQRAAEAA LQTLLRRCKE TSIPL*
speed 1.32 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project